参考文献
[1]
GormanGS, SchaeferAM, NgY, et al.
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease[J].
Ann Neurol,
2015,
77(
5):
753-
759.
[2]
ChenJ, XuK, ZhangX, et al.
Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy[J].
Invest Ophthalmol Vis Sci,
2014,
55(
10):
6987-
6995.
[3]
WangS, WuS, ZhengT, et al.
Mitochondrial DNA mutations in diabetes mellitus patients in Chinese Han population[J].
Gene,
2013,
531(
2):
472-
475.
[4]
赵丹华,王朝霞,于磊,等.
线粒体脑肌病伴高乳酸血症和卒中样发作综合征患者的脑磁共振成像改变[J].
中华神经科杂志,
2014,
47(
4):
229-
231.
[5]
ZhangY, YangYL, SunF, et al.
Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome[J].
J Inherit Metab Dis,
2007,
30(
2):
265.
[6]
LiangM, JiangP, LiF, et al.
Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy[J].
Invest Ophthalmol Vis Sci,
2014,
55(
3):
1321-
1331.
[7]
BaertlingF, RodenburgRJ, SchaperJ, et al.
A guide to diagnosis and treatment of Leigh syndrome[J].
J Neurol Neurosurg Psychiatry,
2014,
85(
3):
257-
265.
[8]
MaYY, WuTF, LiuYP, et al.
Genetic and biochemical findings in Chinese children with Leigh syndrome[J].
J Clin Neurosci,
2013,
20(
11):
1591-
1594.
[9]
RuhoyIS, SanetoRP.
The genetics of Leigh syndrome and its implications for clinical practice and risk management[J].
Appl Clin Genet,
2014,
7:
221-
234.
[10]
WangZ, QiXK, YaoS, et al.
Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case[J].
Neuropathology,
2010,
30(
6):
606-
614.
[11]
ChenZ, ZhaoZ, YeQ, et al.
Mild clinical manifestation and unusual recovery upon coenzyme Q10 treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A[J].
Mol Med Rep,
2015,
11(
3):
1956-
1962.
[12]
HunterMF, PetersH, SalemiR, et al.
Alpers syndrome with mutations in POLG:clinical and investigative features[J].
Pediatr Neurol,
2011,
45(
5):
311-
318.
[13]
BaoX, WuY, WongLJ, et al.
Alpers syndrome with prominent white matter changes[J].
Brain Dev,
2008,
30(
4):
295-
300.
[14]
SanetoRP, CohenBH, CopelandWC, et al.
Alpers-Huttenlocher syndrome[J].
Pediatr Neurol,
2013,
48(
3):
167-
178.
[15]
HinnellC, HaiderS, DelamontS, et al.
Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations[J].
Mov Disord,
2012,
27(
1):
162-
163.
[16]
DemarestST, WhiteheadMT, TurnaciogluS, et al.
Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation [J].
J Child Neurol,
2014,
29(
9):
1249-
1256.
[17]
刘晓莉,包新华,马祎楠,等.
儿童线粒体脑肌病伴乳酸酸中毒和卒中样发作临床、病理及分子生物学特点[J].
中华儿科杂志,
2013,
51(
2):
130-
135.
[18]
KaufmannP, EngelstadK, WeiY, et al.
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype[J].
Neurology,
2011,
77(
22):
1965-
1971.
[19]
MancusoM, OrsucciD, AngeliniC, et al.
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?[J].
J Neurol,
2014,
261(
3):
504-
510.
[20]
王朝霞,栾兴华,张英,等.
97例线粒体肌病/脑肌病患者的线粒体DNA突变分析[J].
中华医学杂志,
2008,
88(
46):
254-
256.
[21]
赵娟,赵丹华,张巍,等.
线粒体DNA A8344G点突变的临床异质性表现[J].
中华医学杂志,
2012,
92(
40):
1981-
1985.
[22]
LiuK, ZhaoH, JiK, et al.
MERRF/MELAS overlap syndrome due to the m.3291T>C mutation[J].
Metab Brain Dis,
2014,
29(
1):
139-
144.
[23]
KhambattaS, NguyenDL, BeckmanTJ, et al.
Kearns-Sayre syndrome:a case series of 35 adults and children[J].
Int J Gen Med,
2014;
7:
325-
332.
[24]
王朝霞,袁云,高枫,等.
慢性进行性眼外肌瘫痪和Kearns-Sayre综合征的线粒体DNA突变分析[J].
中风与神经疾病杂志,
2003,
20(
4):
273-
278.
[25]
Perez-AtaydeAR.
Diagnosis of mitochondrial neurogastrointestinal encephalopathy disease in gastrointestinal biopsies[J].
Hum Pathol,
2013,
44(
7):
1440-
1446.
[26]
唐吉刚,李传芬,李靖,等.
线粒体神经胃肠脑肌病一例临床、病理及基因分析[J].
中华神经科杂志,
2014,
47(
1):
26-
29.
[27]
PfefferG, BurkeA, Yu-Wai-ManP, et al.
Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations[J].
Neurology,
2013,
81(
24):
2073-
2081.
[28]
RawleMJ, LarnerAJ.
NARP Syndrome:A 20-Year Follow-Up[J].
Case Rep Neurol,
2013,
5(
3):
204-
207.
[29]
MiloneM, Brunetti-PierriN, TangLY, et al.
Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations[J].
Neuromuscul Disord,
2008,
18(
8):
626-
632.
[30]
刘淇,刘靖,冷颖林,等.
线粒体DNA单一大片段缺失患者61例临床表型和基因型分析[J].
中华神经科杂志,
2015,
48(
5):
382-
389.
[31]
BrandonBR, DiederichNJ, SoniM, et al.
Autosomal dominant mutations in POLG and C10orf2:association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients[J].
J Neurol,
2013,
260(
7):
1931-
1933.
[32]
赵丹华,栾兴华,陈彬,等.
8例肢带型线粒体肌病患者的临床、病理特点和线粒体基因突变分析[J].
中国神经免疫学和神经病学杂志,
2010,
17(
5):
334-
337.
[33]
BornAP, DunoM, RafiqJ, et al.
A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood[J].
Eur J Paediatr Neurol,
2015,
19(
1):
69-
71.
[34]
FinstererJ, KothariS.
Cardiac manifestations of primary mitochondrial disorders[J].
Int J Cardiol,
2014,
177(
3):
754-
763.
[35]
HanischF, MüllerT, MuserA, et al.
Lactate increase and oxygen desaturation in mitochondrial disorders - evaluation of two diagnostic screening protocols[J].
J Neurol,
2006,
253(
4):
417-
423.
[36]
DavisRL, LiangC, Edema-HildebrandF, et al.
Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease[J].
Neurology,
2013,
81(
21):
1819-
1826.
[37]
KoeneS, de LaatP, van TienovenDH, et al.
Serum FGF21 levels in adult m.3243A>G carriers:clinical implications[J].
Neurology,
2014,
83(
2):
125-
133.
[38]
FrazierAE, ThorburnDR.
Biochemical analyses of the electron transport chain complexes by spectrophotometry[J].
Methods Mol Biol,
2012,
837:
49-
62.
[39]
MancusoM, PiazzaS, VolpiL, et al.
Nerve and muscle involvement in mitochondrial disorders:an electrophysiological study[J].
Neurol Sci,
2012,
33(
2):
449-
452.
[40]
ChevallierJA, Von AllmenGK, KoenigMK.
Seizure semiology and EEG findings in mitochondrial diseases[J].
Epilepsia,
2014,
55(
5):
707-
712.
[41]
张晓,王朝霞,刘凤君,等.
线粒体脑肌病伴高乳酸血症和卒中样发作的癫痫发作及脑电图特点分析[J].
中华神经科杂志,
2014,
47(
5):
336-
349.
[42]
ItoH, MoriK, KagamiS.
Neuroimaging of stroke-like episodes in MELAS[J].
Brain Dev,
2011,
33(
4):
283-
288.
[43]
ScarpelliM, RicciardiGK, BeltramelloA, et al.
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy[J].
Neuroradiol J,
2013,
26(
5):
520-
530.
[44]
HollingsworthKG, GormanGS, TrenellMI, et al.
Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load[J].
Neuromuscul Disord,
2012,
22(
7):
592-
596.
[45]
KatsetosCD, KoutzakiS, MelvinJJ.
Mitochondrial dysfunction in neuromuscular disorders[J].
Semin Pediatr Neurol,
2013,
20(
3):
202-
215.
[46]
LindgrenU, RoosS, Hedberg OldforsC, et al.
Mitochondrial pathology in inclusion body myositis[J].
Neuromuscul Disord,
2015,
25(
4):
281-
288.
[47]
PesceV, CormioA, FracassoF, et al.
Age-related mitochondrial genotypic and phenotypic alterations in human skeletal muscle[J].
Free Radic Biol Med,
2001,
30(
11):
1223-
1233.
[48]
MaY, FangF, YangY, et al.
The study of mitochondrial A3243G mutation in different samples[J].
Mitochondrion,
2009,
9(
2):
139-
143.
[49]
ChiCS.
Diagnostic approach in infants and children with mitochondrial diseases[J].
Pediatr Neonatol,
2015,
56(
1):
7-
18.
[50]
PitceathlyRD, McFarlandR.
Mitochondrial myopathies in adults and children:management and therapy development[J].
Curr Opin Neurol,
2014,
27(
5):
576-
582.
[51]
MiloneM, WongLJ.
Diagnosis of mitochondrial myopathies[J].
Mol Genet Metab,
2013,
110(
1-2):
35-
41.
[52]
FassoneE, WedatilakeY, DeVileCJ, et al.
Treatable Leigh-like encephalopathy presenting in adolescence[J].
BMJ Case Rep,
2013,
2013:
200838.
[53]
BeattieGC, GlaserCA, SheriffH, et al.
Encephalitis with thalamic and basal ganglia abnormalities:etiologies, neuroimaging, and potential role of respiratory viruses[J].
Clin Infect Dis,
2013,
56(
6):
825-
832.
[54]
SatoS, NakajimaJ, ShimuraM, et al.
Reversible basal ganglia lesions in neuropsychiatric lupus:a report of three pediatric cases[J].
Int J Rheum Dis,
2014,
17(
3):
274-
279.
[55]
Matilla-DueasA.
Machado-Joseph disease and other rare spinocerebellar ataxias[J].
Adv Exp Med Biol,
2012,
724:
172-
188.
[56]
MancusoM, OrsucciD, AngeliniC, et al.
Phenotypic heterogeneity of the 8344A>G mtDNA"MERRF"mutation[J].
Neurology,
2013,
80(
22):
2049-
2054.
[57]
Pérez-CambrodíRJ, Gómez-Hurtado CubillanaA, Merino-SuárezML, et al.
Optic neuritis in pediatric population:a review in current tendencies of diagnosis and management[J].
J Optom,
2014,
7(
3):
125-
130.
[58]
MustafaS, PanditL.
Approach to diagnosis and management of optic neuropathy[J].
Neurol India,
2014,
62(
6):
599-
605.
[59]
GuptaSN, MarksHG.
Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome:a clinical diagnosis is desirable[J].
J Neurol Sci,
2008,
264(
1-2):
173-
176.
[60]
ShahrizailaN, YukiN.
Bickerstaff brainstem encephalitis and Fisher syndrome:anti-GQ1b antibody syndrome[J].
J Neurol Neurosurg Psychiatry,
2013,
84(
5):
576-
583.
[61]
HomanDJ, NiyazovDM, FisherPW, et al.
Heart transplantation for a patient with Kearns-Sayre syndrome and end-stage heart failure[J].
Congest Heart Fail,
2011,
17(
2):
102-
104.
[62]
Sri-udomkajornS, PanichaiP, LiumsuwanS.
Childhood myasthenia gravis:clinical features and outcomes[J].
J Med Assoc Thai,
2011,
94
Suppl 3:
S152-
157.
[63]
WenB, DaiT, LiW, et al.
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations[J].
J Neurol Neurosurg Psychiatry,
2010,
81(
8):
231-
236.
[64]
WicklundMP, KisselJT.
The limb-girdle muscular dystrophies[J].
Neurol Clin,
2014,
32(
3):
729-
749.
[65]
SteriadeC, AndradeDM, FaghfouryH, et al.
Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) may respond to adjunctive ketogenic diet[J].
Pediatr Neurol,
2014,
50(
5):
498-
502.
[66]
CejudoP, BautistaJ, MontemayorT, et al.
Exercise training in mitochondrial myopathy:a randomized controlled trial[J].
Muscle Nerve,
2005,
32(
3):
342-
350.
[67]
TarnopolskyMA.
Exercise as a therapeutic strategy for primary mitochondrial cytopathies[J].
J Child Neurol,
2014,
29(
9):
1225-
1234.
[68]
XuH, WangZ, ZhengL, et al.
Lamivudine/telbivudine- associated neuromyopathy:neurogenic damage, mitochondrial dysfunction and mitochondrial DNA depletion[J].
J Clin Pathol,
2014,
67(
11):
999-
1005.
[69]
FinstererJ, Zarrouk-MahjoubS.
Mitochondrial toxicity of cardiac drugs and its relevance to mitochondrial disorders[J].
Expert Opin Drug Metab Toxicol,
2015,
11(
1):
15-
24.
[70]
DuJ, WangY, HunterR, et al.
Dynamic regulation of mitochondrial function by glucocorticoids[J].
Proc Natl Acad Sci U S A,
2009,
106(
9):
3543-
3548.
[71]
GuilletV, ChevrollierA, CassereauJ, et al.
Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity[J].
Mitochondrion,
2010,
10(
2):
115-
124.
[72]
GuanMX.
Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity[J].
Mitochondrion,
2011,
11(
2):
237-
245.
[73]
StringerHA, SohiGK, MaguireJA, et al.
Decreased skeletal muscle mitochondrial DNA in patients with statin-induced myopathy[J].
J Neurol Sci,
2013,
325(
1-2):
142-
147.
[74]
TaySK, DimauroS, PangAY, et al.
Myotoxicity of lipid-lowering agents in a teenager with MELAS mutation[J].
Pediatr Neurol,
2008,
39(
6):
426-
428.
[75]
FitzgeraldK, RedmondE, HarborC.
Statin-induced Myopathy[J].
Glob Adv Health Med,
2012,
1(
2):
32-
36.
[76]
FinstererJ, Zarrouk MahjoubS.
Mitochondrial toxicity of antiepileptic drugs and their tolerability in mitochondrial disorders[J].
Expert Opin Drug Metab Toxicol,
2012,
8(
1):
71-
79.
[77]
Garrido-MaraverJ, CorderoMD, Oropesa-ávilaM, et al.
Coenzyme q10 therapy[J].
Mol Syndromol,
2014,
5(
3-4):
187-
197.
[78]
HargreavesIP.
Coenzyme Q10 as a therapy for mitochondrial disease[J].
Int J Biochem Cell Biol,
2014,
49:
105-
111.
[79]
KlopstockT, Yu-Wai-ManP, DimitriadisK, et al.
A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy[J].
Brain,
2011,
134(
Pt 9):
2677-
2686.
[80]
RudolphG, DimitriadisK, BüchnerB, et al.
Effects of idebenone on color vision in patients with leber hereditary optic neuropathy[J].
J Neuroophthalmol,
2013,
33(
1):
30-
36.
[81]
El-HattabAW, EmrickLT, ChanprasertS, et al.
Mitochondria:role of citrulline and arginine supplementation in MELAS syndrome[J].
Int J Biochem Cell Biol,
2014,
48:
85-
91.
[82]
Quijada-FraileP, O'CallaghanM, Martín-HernándezE, et al.
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome[J].
Orphanet J Rare Dis,
2014,
9:
217.
[83]
van DongenS, BrownRM, BrownGK, et al.
Thiamine-responsive and non-responsive patients with PDHC-E1 deficiency:a retrospective assessment[J].
JIMD Rep,
2015,
15:
13-
27.
[84]
CarrozzoR, TorracoA, FiermonteG, et al.
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency[J]. The chaperon-like effect of vitamin B2[J].
Mitochondrion,
2014,
18:
49-
57.
[85]
AvulaS, ParikhS, DemarestS, et al.
Treatment of mitochondrial disorders[J].
Curr Treat Options Neurol,
2014,
16(
6):
292.
[86]
TinleyC, DawsonE, LeeJ.
The management of strabismus in patients with chronic progressive external ophthalmoplegia[J].
Strabismus,
2010,
18(
2):
41-
47.
[87]
WeitgasserL, WechselbergerG, EnsatF, et al.
Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension[J].
Arch Plast Surg,
2015,
42(
2):
214-
217.
[88]
PijlS, WesterbergBD.
Cochlear implantation results in patients with Kearns-Sayre syndrome[J].
Ear Hear,
2008,
29(
3):
472-
475.